乳がん再発の動態は,後期的に再発するER陽性ゲノムサブグループを示しています
Oscar M Rueda1, Stephen-John Sammut1, Jose A Seoane2,3,4
1Cancer Research UK Cambridge Institute and Department of Oncology, Li Ka Shing Centre, University of Cambridge, Cambridge, UK.
Nature
|March 15, 2019
まとめ
新しい統計モデルが 乳がんの遅い再発を 分子型の分析で予測しています このフレームワークは,特にER陽性のがんを持つ高リスク患者を特定し,臨床試験のためのよりよい分層化を可能にします.
科学分野:
- 腫瘍学
- ゲノミクス
- バイオ統計学
背景:
- 乳がん,特にER陽性型における全身的広がりや後期的な再発の理解は,データギャップによって制限されています.
- 遅い再発を正確に予測することは,患者の管理と治療戦略にとって極めて重要です.
研究 の 目的:
- 異なる乳がんのステージと死亡リスクのモデル化のための統計的枠組みを開発する.
- 分子および臨床データを用いて個々の再発リスク予測を生成する.
主な方法:
- 3,240人の乳がん患者に統計モデルを適用し,そのうちの1,980人が分子データを持っていた.
- 免疫ヒストキミカル,PAM50,統合的 (IntClust) サブタイプにおける空間時間的な再発パターンが描かれています.
- 亜型分類のためにゲノムコピー番号の変異と遺伝子発現データを利用した.
主要な成果:
- 4つの遅発の統合型サブタイプ (ER+/ HER2- 腫瘍の26%) が特定され,再発リスクは最大20年です.
- 三重陰性乳がんの定義されたサブグループで,明確な後期再発パターンがある.
- 統合的サブタイプは,臨床的共変数を超えて,遅い遠隔再発の予測を改善しました.
結論:
- 開発された統計的枠組みと統合的サブタイプは,乳がんの遅い再発の予測を高めます.
- 研究結果は,患者の階層化を改善し,バイオマーカー主導の臨床試験の開発を支援しています.
- 分子的に定義されたサブタイプは 異なる乳がんの進行経路に関する 重要な洞察を提供します
関連する概念動画
Genomics
40.3K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
40.3K
Genomic Imprinting and Inheritance
37.1K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.1K
Chromatin Position Affects Gene Expression
24.8K
Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area.
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the...
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the...
24.8K
Position-effect Variegation
7.1K
In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
7.1K
Genome Size and the Evolution of New Genes
9.1K
While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
9.1K
Position and Displacement
25.4K
The position of an object defines its location relative to a convenient frame of reference at any particular time. A frame of reference is an arbitrary set of axes from which the position and motion of an object are described. Earth is often used as a frame of reference, and we often describe the position of an object as it relates to stationary objects on Earth. For example, a rocket launch could be described in terms of the position of the rocket with respect to Earth as a whole. On the other...
25.4K


